Human radiosensitivity and radiosusceptibility: what are the differences?

L El-Nachef, J Al-Choboq, J Restier-Verlet… - International Journal of …, 2021 - mdpi.com
The individual response to ionizing radiation (IR) raises a number of medical, scientific, and
societal issues. While the term “radiosensitivity” was used by the pioneers at the beginning …

Ataxia-telangiectasia

RA Gatti, RB Painter - 2013 - books.google.com
Ataxia-telangiectasia or AT is a fatal progressive neurological disease of children. The
symptoms indicate disruptions in the development of such diverse body parts as cerebellum …

X-linked TLR7 deficiency underlies critical COVID-19 pneumonia in a male patient with ataxia-telangiectasia

H Abolhassani, A Vosughimotlagh, T Asano… - Journal of clinical …, 2022 - Springer
Abstract Background Coronavirus disease 2019 (COVID-19) exhibits a wide spectrum of
clinical manifestations, ranging from asymptomatic to critical conditions. Understanding the …

[HTML][HTML] Cancer in children with Fanconi anemia and Ataxia-Telangiectasia—a nationwide register-based cohort study in Germany

CM Dutzmann, C Spix, I Popp, M Kaiser… - Journal of Clinical …, 2022 - ncbi.nlm.nih.gov
PURPOSE Fanconi anemia (FA) and ataxia-telangiectasia (AT) are rare inherited
syndromes characterized by abnormal DNA damage response and caused by pathogenic …

Atypical ataxia presentation in variant ataxia telangiectasia: Iranian case-series and review of the literature

T Moeini Shad, R Yazdani, P Amirifar… - Frontiers in …, 2022 - frontiersin.org
Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative multisystem
disorder. A minority of AT patients can present late-onset atypical presentations due to …

[HTML][HTML] Microrchidia CW-type zinc finger 2, a chromatin modifier in a spectrum of peripheral neuropathies

A Jacquier, S Roubille, P Lomonte… - Frontiers in Cellular …, 2022 - frontiersin.org
Microrchidia CW-type zinc finger 2 (MORC2) gene encodes a protein expressed in all
tissues and enriched in the brain. MORC2 protein is composed of a catalytic ATPase …

[HTML][HTML] Dendritic cells in inborn errors of immunity

S Gupta, A Agrawal - Frontiers in Immunology, 2023 - frontiersin.org
Dendritic cells (DCs) are crucial cells for initiating and maintaining immune response. They
play critical role in homeostasis, inflammation, and autoimmunity. A number of molecules …

Discovery of therapeutics targeting oxidative stress in autosomal recessive cerebellar ataxia: a systematic review

SY Lew, MWL Phang, PS Chong, J Roy, CH Poon… - Pharmaceuticals, 2022 - mdpi.com
Autosomal recessive cerebellar ataxias (ARCAs) are a heterogeneous group of rare
neurodegenerative inherited disorders. The resulting motor incoordination and progressive …

Biosensors for the detection of protein kinases: Recent progress and challenges

N Fathi, A Saadati, M Alimohammadi… - Microchemical …, 2022 - Elsevier
Protein kinases act as a trigger for regulating a wide range of cellular processes including
development, survival, apoptosis, control of metabolism, transcription signals, and beyond …

[HTML][HTML] Pathobiology, irradiation dosimetric parameters and therapy of radiation-induced gastric damage: a narrative review

MJ McKay, R Foster - Journal of Gastrointestinal Oncology, 2021 - ncbi.nlm.nih.gov
Objective To review the pathobiology, irradiation dosimetric parameters and other risk
factors, and therapy of radiation-induced gastric damage (RIGD). Background RIGD is a side …